{"id":"W4297894291","doi":"10.1101/2022.09.21.22279949","title":"The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Genetic testing; Exome sequencing; Gene; Exome; Medicine; Clinical significance; Internal medicine; Genetics; Computational biology; Mutation; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0598401,0.0003547842,0.001089963,0.003290165,0.001060909,0.006736031,0.002840328,0.002874643,0.004796908],"category_scores_gemma":[0.174786,0.0005193665,0.001189794,0.004259772,0.002537468,0.007524719,0.002386016,0.004547935,0.0009849286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003013263,"about_ca_system_score_gemma":0.003774212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008587823,"about_ca_topic_score_gemma":0.009703357,"domain_scores_codex":[0.9652185,0.01664438,0.004602192,0.004923107,0.00703871,0.001573038],"domain_scores_gemma":[0.8035973,0.1024618,0.03730871,0.01410412,0.03391867,0.00860945],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006403458,0.0001914157,0.6202975,0.001064356,0.0006946826,0.0004680362,0.002581479,0.001850101,0.001467092,0.009941393,0.04474425,0.3160593],"study_design_scores_gemma":[0.0000637865,0.0006992324,0.887074,0.002219093,0.0003923292,0.002850987,0.007707935,0.007466977,0.001740755,0.01498834,0.07455044,0.0002460832],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.3305805,0.036036,0.03366882,0.5780879,0.002894788,0.00009751692,0.00600907,0.001100075,0.01152529],"genre_scores_gemma":[0.9342325,0.006582568,0.02326933,0.02973101,0.001876288,0.000122031,0.00287171,0.0003384047,0.0009763063],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0598401,"threshold_uncertainty_score":0.3164685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0765271620174979,"score_gpt":0.2851000518403058,"score_spread":0.2085728898228079,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}